Canonical Allele Identifier: CA696975

Gene: SELENON

Linked Data

• ClinVar Variation Id: 281048
• ClinVar RCV Id: RCV000340120 ; RCV001083468 ; RCV000723478 ; RCV000765103 ; RCV003920033
• dbSNP Id: rs183272965
• ExAC: 1:26142151 C / A
• gnomAD v2: 1-26142151-C-A
• gnomAD v3: 1-25815660-C-A
• gnomAD v4: 1-25815660-C-A
• MyVariant Identifiers: chr1:g.26142151C>A (hg19) ; chr1:g.25815660C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25815660C>A , CM000663.2:g.25815660C>A	GRCh38
NC_000001.10:g.26142151C>A , CM000663.1:g.26142151C>A	GRCh37
NC_000001.9:g.26014738C>A	NCBI36
NG_009930.1:g.20485C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354177.9:c.1544C>A	ENSP00000346109.5:p.Thr515Asn
ENST00000494537.2:c.1702C>A	ENSP00000508308.1:n.1702C>A
ENST00000361547.7:c.1715C>A MANE Select	ENSP00000355141.2:p.Thr572Asn
ENST00000354177.8:c.1613C>A	ENSP00000346109.4:p.Thr538Asn
ENST00000361547.6:c.1715C>A	ENSP00000355141.2:p.Thr572Asn
ENST00000374315.1:c.1613C>A	ENSP00000363434.1:p.Thr538Asn
ENST00000494537.1:n.482C>A
ENST00000527604.1:c.123+1482C>A	ENSP00000457066.1:n.123+1482C>A
ENST00000559265.1:n.255+3781C>A
ENST00000630065.2:c.143C>A	ENSP00000487549.1:p.Thr48Asn
NM_020451.2:c.1715C>A	NP_065184.2:p.Thr572Asn
NM_206926.1:c.1613C>A	NP_996809.1:p.Thr538Asn
NM_020451.3:c.1715C>A MANE Select	NP_065184.2:p.Thr572Asn
NM_206926.2:c.1613C>A	NP_996809.1:p.Thr538Asn